Publications

Conceptual frameworks for cultural competence are essential in psychological care. The assessment of implementation efforts in pediatric neuropsychological contexts is particularly lacking. This study investigated an adapted training program for the Cultural Formulation Interview (CFI), including impact on provider cultural competence and perspectives on adaptation and implementation. Neuropsychological care providers (N = 16) participated in an adapted, group-based CFI training. The training...

CONCLUSIONS: Our assay shows high specificity and sensitivity to detect HCV RNA directly from plasma within 45 min, and hence could be utilized for efficient screening and diagnosis of HCV infection globally.

Organisms regulate cell size and shape to function efficiently. Aberrant cell morphogenesis is commonly associated with disease, yet gene-regulatory mechanisms remain unknown. CISTR-ACT was the first lncRNA involved in inter-chromosomal proximities and Mendelian disease, and it is associated with mean corpuscular volume (red blood cell size). Here, functional dissection of CISTR-ACT's DNA- and RNA-encoded mechanisms by in vitro and in vivo perturbations reveals that CISTR-ACT regulates cell size...

Many patients receiving frontline tyrosine kinase inhibitors (TKIs) for chronic phase chronic myeloid leukemia (CML-CP) experience inadequate disease control and/or adverse events (AEs) that impair quality of life. Treatments offering optimal efficacy, safety, and tolerability will support long-term therapy. In the primary analysis from ASC4FIRST, a phase 3 randomized trial comparing asciminib with investigator-selected TKIs (IS-TKIs) in newly diagnosed CML-CP, asciminib demonstrated superior...

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How do neurophysiological traits that characterize individuals evolve across the lifespan? To address this question, we analyzed task-free magnetoencephalographic recordings from over 1,000 individuals aged 4-89. We found that neurophysiological activity is more similar between individuals in childhood than in adulthood, an effect driven predominantly by arrhythmic brain activity. In contrast, periodic activity-based profiles remain reliable markers of individuality across all ages. The cortical...

CONCLUSIONS: CV-based techniques can be effectively used to reduce subjectivity of intracorporeal measurement by delivering an objective measurement during image-guided surgery.

CONCLUSIONS: Despite the lower sequencing accuracy and depth obtained from Nanopore sequencing, a high positive predictive value can be achieved in a set of donor-specific SNVs when appropriately filtered by read depth and overlap with SNP databases. This demonstrates the potential for the use of Nanopore sequencing to generate personalized donor cfDNA maps for use in post-operative donor-derived plasma cfDNA identification.

This study is aimed at determining the spectrum of congenital heart disease associated with distal 22q11.22-23 deletions flanked by low copy repeats, LCR22 D-H. We analyzed cardiology findings in 128 unrelated individuals with distal LCR22 D-H deletions. A total of 62 were newly described and 66 were derived from previous reports. We found that deletions which included LCR22-D as the proximal endpoint were the most prevalent in the cohort (104/128, 81.3%). Clinically relevant congenital heart...

Depression remains a pervasive global health challenge, compounded by limited therapeutic efficacy that is partly attributed to incompletely understood metabolic underpinnings. In this study, we reveal a noncanonical mitochondrial function of astrocytic connexin 43 (Cx43) whereby it directly inhibits isocitrate dehydrogenase 3α (IDH3α), thereby sustaining glycolytic metabolism and lactate production essential for neuronal excitability. Astrocyte-specific deletion of Cx43 in the prelimbic cortex...

DNA methylation-based classification is now central to contemporary neuro-oncology, as highlighted by the World Health Organization (WHO) classification of central nervous system (CNS) tumors. We present the Heidelberg CNS Tumor Methylation Classifier version 12.8 (v12.8), trained on 7,495 methylation profiles, which expands recognized entities from 91 classes in version 11 (v11) to 184 subclasses. This expansion is a result of newly identified tumor types discovered through our large online...

JBrowse 2 is an open-source genome browser that provides unique features for visualizing syntenic relationships between multiple genomes. This article describes a protocol for setting up synteny views in JBrowse 2, using an assembly-to-assembly whole-genome alignment example. We detail data preparation steps, including the generation and formatting of whole-genome alignment data into formats compatible with JBrowse 2's synteny visualization capabilities, and show the GUI-driven process for...

CONCLUSIONS: Children with CP functioning at GMFCS III-V are prone to fragility fractures in the lower extremities with several modifiable risk factors identified, including poor nutrition, weight imbalance, uncontrolled seizures, and limited weight-bearing activity.

Medulloblastoma (MB), particularly Group_3 (G3-MB), remains the most aggressive subgroup due to strong stemness and therapeutic resistance. Through genome-wide DNA methylation and transcriptomic analysis of human MB samples, we identify enhancer hypomethylation as a key feature sustaining G3-MB stemness and tumor progression. Notably, hypomethylation of the Otx2 super-enhancer (SE) is a prognostic marker and potential therapeutic target for G3-MB patients. We demonstrate that disrupting Otx2 SE...

Spatial transcriptomics lacks standardized metrics for evaluating imaging-based in situ hybridization technologies across sites. In this study, we generated the Spatial Touchstone (ST) dataset from six tissue types across several global sites with centralized sectioning, analyzed on both Xenium and CosMx platforms. These platforms were selected for their widespread use and distinct chemistries. We assessed reproducibility, sensitivity, dynamic ranges, signal-to-noise ratio, false discovery...

Gramene (gramene.org) is a comprehensive reference database for comparative plant genomics and pathway analysis, integrating functional annotations, evidence-based curated pathways and their projections, and multi-omics datasets. Since our last report, Gramene has added crop-specific pan-genome portals for maize, sorghum, rice, and grapevine. These pan-genome portals host population-scale datasets and multiple assembled genomes per species, all anchored by shared reference genomes. Importantly,...

CONCLUSIONS: Current evidence supports an expanding spectrum of motor phenotypes associated with 22q11.2 microdeletion, with emerging data reporting potentially useful clinical markers and non-drug-related risk modifiers and underlying mechanisms. Addressing prevailing gaps will require enhanced research designs with up-to-date diagnostic and genetic methodologies, robust preclinical models, and cross-disciplinary collaborations.

Precision medicine aims to tailor healthcare by integrating individual genetic, epigenetic, transcriptomic, proteomic, and clinical data, collectively referred to as multi-omic data. However, the scale and complexity of such multi-omics datasets challenge classical computing approaches. Quantum computing, which leverages superposition and entanglement (quantum-level correlations between particles), offers a fundamentally new paradigm for accelerating molecular simulations, biomarker discovery,...

CONCLUSIONS: Our study highlights gaps in current evaluations of virtual care. Work is needed to improve the quality and standardization of virtual care evaluation to ensure reproducibility, generalizability, and comparability of findings. Additionally, compliance with existing measure definitions and conventions should extend to virtual care. Finally, additional theoretical work is needed to standardize and conceptually frame future virtual care evaluations. Future studies should include both...

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